ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2610G>A (p.Glu870=) (rs143738711)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711036 SCV000841356 benign not provided 2017-09-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179295 SCV000231521 benign not specified 2015-05-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267557 SCV000440123 benign Hypocalcemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297045 SCV000440124 benign Familial hypocalciuric hypercalcemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354197 SCV000440125 benign Neonatal severe hyperparathyroidism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261785 SCV000440126 benign Hypoparathyroidism familial isolated 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000228091 SCV000284790 benign Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1 2018-01-18 criteria provided, single submitter clinical testing
PreventionGenetics RCV000179295 SCV000306962 benign not specified criteria provided, single submitter clinical testing

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