ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.1194G>C (p.Lys398Asn)

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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 RCV005035606 SCV005671158 uncertain significance SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR; Oculocutaneous albinism type 4 2024-01-19 criteria provided, single submitter clinical testing

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