ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.2690G>A (p.Gly897Glu) (rs121912860)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710841 SCV000841146 pathogenic not provided 2018-06-20 criteria provided, single submitter clinical testing
Counsyl RCV000666567 SCV000790877 likely pathogenic Alport syndrome, autosomal recessive 2017-04-12 criteria provided, single submitter clinical testing
OMIM RCV000018949 SCV000039236 pathogenic Benign familial hematuria 1996-09-01 no assertion criteria provided literature only

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