ClinVar Miner

Submissions for variant NM_000550.3(TYRP1):c.98T>C (p.Val33Ala)

gnomAD frequency: 0.00128  dbSNP: rs146838872
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000911206 SCV001056264 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001167916 SCV001330462 benign Oculocutaneous albinism type 3 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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