ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.2244+25C>G

gnomAD frequency: 0.78077  dbSNP: rs7175046
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001671828 SCV001886698 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788736 SCV002029273 benign Tyrosinase-positive oculocutaneous albinism 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001671828 SCV005297453 benign not provided criteria provided, single submitter not provided

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