ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.3054C>T (p.Cys1018=) (rs371038712)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000324970 SCV000440147 uncertain significance Neonatal severe hyperparathyroidism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363417 SCV000440148 uncertain significance Familial hypocalciuric hypercalcemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271192 SCV000440149 uncertain significance Hypocalcemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328611 SCV000440150 uncertain significance Hypoparathyroidism familial isolated 2016-06-14 criteria provided, single submitter clinical testing

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