Submissions for variant NM_000388.4(CASR):c.906C>T (p.Ser302=)

gnomAD frequency: 0.00063  dbSNP: rs201067850

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000469064	SCV000561362	benign	Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1	2024-01-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004023000	SCV001180047	likely benign	Nephrolithiasis/nephrocalcinosis	2019-04-05	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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003320658	SCV004024946	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003424036	SCV004155404	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	CASR: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004554784	SCV004709910	likely benign	CASR-related disorder	2022-05-13	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).