ClinVar Miner

Submissions for variant NM_018075.5(ANO10):c.74A>C (p.Gln25Pro)

gnomAD frequency: 0.01413  dbSNP: rs112040665
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000302734 SCV000444343 likely benign Autosomal recessive spinocerebellar ataxia 10 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000972700 SCV001120423 benign not provided 2024-09-05 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001287982 SCV001474756 benign not specified 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000972700 SCV002498832 likely benign not provided 2023-11-17 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics RCV000972700 SCV005260767 likely benign not provided criteria provided, single submitter not provided

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