ClinVar Miner

Submissions for variant NM_003172.4(SURF1):c.321C>T (p.Ala107=)

gnomAD frequency: 0.00007  dbSNP: rs141425824
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000874503 SCV001016687 likely benign Leigh syndrome 2024-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000874503 SCV001331396 uncertain significance Leigh syndrome 2017-04-27 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001593100 SCV001814211 likely benign not provided 2020-07-16 criteria provided, single submitter clinical testing

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