ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.625G>A (p.Asp209Asn)

gnomAD frequency: 0.00034  dbSNP: rs183556625
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000368364 SCV000373864 uncertain significance Autism spectrum disorder 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002522203 SCV003695779 likely benign Inborn genetic diseases 2021-07-23 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 RCV003409474 SCV004137192 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing SHANK2: BS1
Breakthrough Genomics, Breakthrough Genomics RCV003409474 SCV005190431 uncertain significance not provided criteria provided, single submitter not provided

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