ClinVar Miner

Submissions for variant NM_178822.5(IGSF10):c.5405A>T (p.Asp1802Val)

gnomAD frequency: 0.00229  dbSNP: rs35736581
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000971357 SCV001119001 likely benign not provided 2023-10-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000971357 SCV004148566 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing IGSF10: BS2
PreventionGenetics, part of Exact Sciences RCV003918463 SCV004734274 benign IGSF10-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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