ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.1122= (p.Leu374=)

gnomAD frequency: 0.32383  dbSNP: rs16891982
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000948184 SCV001094382 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
OMIM RCV000004763 SCV000024939 association Skin/hair/eye pigmentation, variation in, 5 2015-05-18 no assertion criteria provided literature only
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000022392 SCV000043077 protective Malignant melanoma of skin 2013-01-22 no assertion criteria provided curation

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