ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.573G>A (p.Glu191=) (rs141631116)

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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 RCV000516564 SCV000612674 benign not specified 2017-05-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261016 SCV000440063 likely benign Familial hypocalciuric hypercalcemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318421 SCV000440064 likely benign Hypoparathyroidism familial isolated 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356907 SCV000440065 likely benign Neonatal severe hyperparathyroidism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273897 SCV000440066 likely benign Hypocalcemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000229524 SCV000284799 benign Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1 2018-01-05 criteria provided, single submitter clinical testing

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