ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.762T>C (p.His254=) (rs76438850)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000382240 SCV000440071 likely benign Neonatal severe hyperparathyroidism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289893 SCV000440072 likely benign Hypoparathyroidism familial isolated 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347151 SCV000440073 likely benign Hypocalcemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404951 SCV000440074 likely benign Familial hypocalciuric hypercalcemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000227351 SCV000284801 likely benign Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1 2017-12-20 criteria provided, single submitter clinical testing

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