Submissions for variant NM_000388.4(CASR):c.492+19G>A

gnomAD frequency: 0.91296  dbSNP: rs9869985

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000029451	SCV000052101	benign	Familial hypocalciuric hypercalcemia	2011-08-18	criteria provided, single submitter	curation	Converted during submission from benign to Benign.
Eurofins Ntd Llc (ga)	RCV000078686	SCV000110546	benign	not specified	2013-08-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078686	SCV000306966	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710098	SCV000612672	benign	not provided	2017-07-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000078686	SCV000714029	benign	not specified	2017-12-13	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001519670	SCV001728569	benign	Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001554694	SCV001775979	benign	Neonatal severe primary hyperparathyroidism	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001554695	SCV001775980	benign	Autosomal dominant hypocalcemia 1	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001554696	SCV001775981	benign	Familial hypocalciuric hypercalcemia 1	2021-07-14	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000710098	SCV005303510	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000078686	SCV001744370	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000078686	SCV001931694	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000078686	SCV001951336	benign	not specified		no assertion criteria provided	clinical testing