ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.617A>G (p.Asn206Ser)

gnomAD frequency: 0.00235  dbSNP: rs150026441
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000346292 SCV000343821 likely benign not specified 2016-08-17 criteria provided, single submitter clinical testing
Invitae RCV000861398 SCV001001698 likely benign Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2023-12-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848066 SCV002104813 likely benign Hereditary spastic paraplegia 2019-10-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437051 SCV004163198 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing WASHC5: BP4
PreventionGenetics, part of Exact Sciences RCV003957505 SCV004780013 likely benign WASHC5-related condition 2022-04-29 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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