ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1819G>A (p.Ala607Thr)

gnomAD frequency: 0.00109  dbSNP: rs75539253
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000910255 SCV001055106 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000910255 SCV001813725 likely benign not provided 2020-07-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495497 SCV002795083 likely benign Autosomal recessive Alport syndrome; Benign familial hematuria 2021-09-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912998 SCV004736940 likely benign COL4A4-related condition 2021-10-21 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).
Natera, Inc. RCV001274055 SCV001457783 uncertain significance Alport syndrome 2019-11-11 no assertion criteria provided clinical testing

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