ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.987A>G (p.Thr329=)

gnomAD frequency: 0.95123  dbSNP: rs2287949
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178307 SCV000230364 benign not specified 2014-12-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001518092 SCV001726731 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808454 SCV002057552 benign Oculocutaneous albinism type 4 2021-07-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500501 SCV002812363 benign SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR; Oculocutaneous albinism type 4 2021-09-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001518092 SCV005299743 benign not provided criteria provided, single submitter not provided

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