ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.915C>A (p.Ile305=) (rs200528343)

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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 RCV000283947 SCV000440075 likely benign Familial hypocalciuric hypercalcemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341465 SCV000440076 likely benign Hypoparathyroidism familial isolated 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394235 SCV000440077 likely benign Hypocalcemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297126 SCV000440078 likely benign Neonatal severe hyperparathyroidism 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000458570 SCV000561375 benign Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1 2017-12-11 criteria provided, single submitter clinical testing

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