ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.3168G>T (p.Val1056=) (rs886057831)

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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 RCV000376313 SCV000440151 uncertain significance Hypoparathyroidism familial isolated 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281252 SCV000440152 uncertain significance Familial hypocalciuric hypercalcemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317589 SCV000440153 uncertain significance Hypocalcemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372191 SCV000440154 uncertain significance Neonatal severe hyperparathyroidism 2016-06-14 criteria provided, single submitter clinical testing

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