ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1775A>G (p.Asn592Ser) (rs117375173)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518422 SCV000612653 benign not specified 2017-03-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374352 SCV000440111 likely benign Hypoparathyroidism familial isolated 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292615 SCV000440112 likely benign Familial hypocalciuric hypercalcemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349859 SCV000440113 likely benign Hypocalcemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388159 SCV000440114 likely benign Neonatal severe hyperparathyroidism 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000231272 SCV000284785 benign Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1 2018-01-08 criteria provided, single submitter clinical testing

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