ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.1072_1081del (p.Thr358fs)

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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 RCV005035607 SCV005671162 likely pathogenic SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR; Oculocutaneous albinism type 4 2024-02-05 criteria provided, single submitter clinical testing

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