ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.1884del (p.Gly629fs)

dbSNP: rs1598293710
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000991593 SCV001143185 likely pathogenic not provided 2019-07-22 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality (0/282808 chr).

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