ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.537A>G (p.Gln179=) (rs200129212)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471231 SCV000561368 benign Familial hypocalciuric hypercalcemia; Hypocalcemia, autosomal dominant 1 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000594797 SCV000708517 likely benign not specified 2017-05-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV001024002 SCV001185952 likely benign Inborn genetic diseases 2019-06-05 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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