ClinVar Miner

Submissions for variant NM_144596.4(TTC8):c.299A>G (p.Asn100Ser)

gnomAD frequency: 0.00230  dbSNP: rs139392523
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727612 SCV000854870 likely benign not specified 2018-06-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000860671 SCV001000796 likely benign Bardet-Biedl syndrome 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980359 SCV004798066 benign TTC8-related disorder 2019-09-12 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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