ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.3734G>T (p.Gly1245Val)

gnomAD frequency: 0.00001  dbSNP: rs1189502123
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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 RCV000516720 SCV000612969 likely pathogenic not provided 2017-07-10 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000516720 SCV000809181 likely pathogenic not provided 2018-09-16 no assertion criteria provided research
Counsyl RCV000984249 SCV001132369 uncertain significance Autosomal recessive Alport syndrome 2019-06-09 no assertion criteria provided clinical testing

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