ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.78C>G (p.Ala26=) (rs77852524)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173117 SCV000224205 benign not specified 2014-09-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357932 SCV000440059 benign Neonatal severe hyperparathyroidism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267011 SCV000440060 benign Hypoparathyroidism familial isolated 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305712 SCV000440061 benign Hypocalcemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353506 SCV000440062 benign Familial hypocalciuric hypercalcemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000458475 SCV000561352 benign Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1 2018-01-10 criteria provided, single submitter clinical testing

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