ClinVar Miner

Submissions for variant NM_018026.4(PACS1):c.2061T>A (p.Ser687=)

gnomAD frequency: 0.01482  dbSNP: rs572697
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554209 SCV000652983 benign Schuurs-Hoeijmakers syndrome 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312205 SCV000846821 benign Inborn genetic diseases 2016-06-14 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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 RCV001696178 SCV001916439 benign not provided 2019-07-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117887 SCV000152160 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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