ClinVar Miner

Submissions for variant NM_178822.5(IGSF10):c.4104C>T (p.Phe1368=)

gnomAD frequency: 0.00144  dbSNP: rs149800383
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000972398 SCV001120107 benign not provided 2023-07-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003943217 SCV004761561 likely benign IGSF10-related disorder 2019-11-06 no assertion criteria provided 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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