ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.1007G>C (p.Arg336Thr)

gnomAD frequency: 0.00011  dbSNP: rs150430170
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202751 SCV000258075 uncertain significance not specified 2015-05-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001439371 SCV001642256 likely benign Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2024-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002517353 SCV003530666 likely benign Inborn genetic diseases 2022-05-20 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.
Athena Diagnostics RCV000202751 SCV005622282 benign not specified 2024-04-19 criteria provided, single submitter clinical testing

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