ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1116C>T (p.Thr372=)

dbSNP: rs539867627
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000639480 SCV000761055 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-10-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002325240 SCV001178449 likely benign Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2019-07-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV002507089 SCV002808862 likely benign Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 2022-03-14 criteria provided, single submitter clinical testing

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