ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1657G>A (p.Gly553Arg)

dbSNP: rs104893719
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003320545 SCV004024950 likely pathogenic not provided 2023-08-15 criteria provided, single submitter clinical testing
OMIM RCV000008862 SCV000029072 pathogenic Familial hypocalciuric hypercalcemia 1 2007-11-01 no assertion criteria provided literature only

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