ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2955C>T (p.Asn985=) (rs199884115)

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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 RCV000291642 SCV000440135 uncertain significance Neonatal severe hyperparathyroidism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340015 SCV000440136 uncertain significance Hypoparathyroidism familial isolated 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405908 SCV000440137 uncertain significance Familial hypocalciuric hypercalcemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305011 SCV000440138 uncertain significance Hypocalcemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000466799 SCV000561373 likely benign Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1 2017-09-25 criteria provided, single submitter clinical testing

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