ClinVar Miner

Submissions for variant NM_000067.2(CA2):c.-181A>T

gnomAD frequency: 0.98543  dbSNP: rs11261477
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000363093 SCV000484347 benign Osteopetrosis with renal tubular acidosis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001692090 SCV001910342 benign not provided 2018-11-10 criteria provided, single submitter clinical testing

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