ClinVar Miner

Submissions for variant NM_017864.4(INTS8):c.2263A>C (p.Ser755Arg)

gnomAD frequency: 0.00425  dbSNP: rs150502842
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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 RCV000964419 SCV001111625 benign not provided 2018-08-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000964419 SCV004158228 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing INTS8: BS2
PreventionGenetics, part of Exact Sciences RCV003926238 SCV004742181 likely benign INTS8-related disorder 2019-11-18 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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