ClinVar Miner

Submissions for variant NM_015378.4(VPS13D):c.3178G>A (p.Asp1060Asn)

gnomAD frequency: 0.00044  dbSNP: rs200303790
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002129840 SCV002407447 benign not provided 2023-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307966 SCV004002778 likely benign Inborn genetic diseases 2023-06-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV002129840 SCV004128513 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing VPS13D: BP4, BS2

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