ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1942C>T (p.Arg648Ter) (rs104893705)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001013794 SCV001174424 pathogenic Inborn genetic diseases 2019-03-13 criteria provided, single submitter clinical testing Deficient protein function in appropriate functional assay(s);Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Good segregation with disease (lod 1.5-3 = 5-9 meioses);Rarity in general population databases (dbsnp, esp, 1000 genomes)
OMIM RCV000008843 SCV000029053 pathogenic Hypocalciuric hypercalcemia, familial, type 1 2004-08-01 no assertion criteria provided literature only
OMIM RCV000054484 SCV000082961 pathogenic Neonatal severe hyperparathyroidism 2004-08-01 no assertion criteria provided literature only

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