ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.875del (p.Asn292fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005043282 SCV005671168 likely pathogenic SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR; Oculocutaneous albinism type 4 2024-05-16 criteria provided, single submitter clinical testing

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