ClinVar Miner

Submissions for variant NM_001206999.2(CIT):c.3491A>G (p.Asn1164Ser)

gnomAD frequency: 0.00151  dbSNP: rs145731510
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000787946 SCV000926967 uncertain significance Microcephaly 17, primary, autosomal recessive 2019-01-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000903019 SCV001047468 likely benign not provided 2024-01-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000903019 SCV002821741 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing CIT: PP2, BS2
PreventionGenetics, part of Exact Sciences RCV003938159 SCV004754158 likely benign CIT-related disorder 2022-06-07 criteria provided, single submitter 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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