ClinVar Miner

Submissions for variant NM_000067.3(CA2):c.663+82A>C

gnomAD frequency: 0.88940  dbSNP: rs6605618
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554637 SCV001775906 benign Osteopetrosis with renal tubular acidosis 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001619983 SCV001847335 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001619983 SCV005271367 benign not provided criteria provided, single submitter not provided

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