ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1733-9A>G (rs190731787)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000271263 SCV000440103 likely benign Hypocalcemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310035 SCV000440104 likely benign Neonatal severe hyperparathyroidism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357824 SCV000440105 likely benign Familial hypocalciuric hypercalcemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265913 SCV000440106 likely benign Hypoparathyroidism familial isolated 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000549471 SCV000638029 benign Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1 2017-10-17 criteria provided, single submitter clinical testing
PreventionGenetics RCV000249281 SCV000306960 likely benign not specified criteria provided, single submitter clinical testing

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