ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.1754A>G (p.Asn585Ser)

gnomAD frequency: 0.00003  dbSNP: rs147336313
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316911 SCV000850736 likely benign Inborn genetic diseases 2018-09-09 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.
GeneDx RCV001561679 SCV001784324 likely benign not provided 2018-12-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001561679 SCV004247305 benign not provided 2024-11-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001561679 SCV005209957 likely benign not provided criteria provided, single submitter not provided

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