ClinVar Miner

Submissions for variant NM_178822.5(IGSF10):c.7254C>T (p.Gly2418=)

gnomAD frequency: 0.00538  dbSNP: rs111254790
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000969880 SCV001117419 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000969880 SCV004148565 benign not provided 2024-07-01 criteria provided, single submitter clinical testing IGSF10: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000969880 SCV005305168 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003928472 SCV004746178 likely benign IGSF10-related disorder 2019-02-20 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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