ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe)

gnomAD frequency: 0.67617  dbSNP: rs16891982
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178963 SCV000231146 benign not specified 2014-12-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001519776 SCV001728704 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001519776 SCV001871291 benign not provided 2021-08-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15714523, 24616518, 23071798, 19578363, 18650849, 19384953, 18563784, 22464347, 23660638, 19916045, 17999355)
Genome-Nilou Lab RCV001808456 SCV002057541 benign Oculocutaneous albinism type 4 2021-07-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500506 SCV002808431 benign SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR; Oculocutaneous albinism type 4 2022-05-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001519776 SCV005299739 benign not provided criteria provided, single submitter not provided

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