ClinVar Miner

Submissions for variant NM_003638.3(ITGA8):c.840T>C (p.Ser280=)

gnomAD frequency: 0.00086  dbSNP: rs151036773
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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 RCV000973037 SCV001120772 likely benign not provided 2024-11-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV001334157 SCV001526925 uncertain significance Renal hypodysplasia/aplasia 1 2018-07-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
CeGaT Center for Human Genetics Tuebingen RCV000973037 SCV004126482 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing ITGA8: BP4, BP7
Ambry Genetics RCV004986718 SCV005599355 likely benign Inborn genetic diseases 2024-11-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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