ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.393G>A (p.Pro131=)

gnomAD frequency: 0.00004  dbSNP: rs201360495
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002314444 SCV000848042 likely benign Inborn genetic diseases 2016-10-18 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000907368 SCV001052067 benign not provided 2023-08-14 criteria provided, single submitter clinical testing
GeneDx RCV000907368 SCV002027988 benign not provided 2021-11-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253586 SCV002524726 benign ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002253586 SCV002802039 likely benign ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2021-09-16 criteria provided, single submitter clinical testing

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