Submissions for variant NM_000388.4(CASR):c.2844G>A (p.Leu948=)

gnomAD frequency: 0.00009  dbSNP: rs140586950

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001460792	SCV001664671	likely benign	Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1	2024-08-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004038592	SCV002748506	likely benign	Nephrolithiasis/nephrocalcinosis	2022-03-07	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics	RCV002501608	SCV002812950	likely benign	Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1	2022-02-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004699390	SCV005204490	likely benign	not specified	2024-06-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004554867	SCV004721755	likely benign	CASR-related disorder	2022-04-14	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).