ClinVar Miner

Submissions for variant NM_001737.5(C9):c.499C>T (p.Pro167Ser)

gnomAD frequency: 0.00618  dbSNP: rs34882957
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001438538 SCV001641415 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001438538 SCV004160947 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing C9: BS2; ENSG00000289699: BS2
OMIM RCV000077786 SCV000109612 risk factor Age related macular degeneration 15 2013-11-01 no assertion criteria provided literature only

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