ClinVar Miner

Submissions for variant NM_000396.4(CTSK):c.395dup (p.Asn132fs)

dbSNP: rs1057516725
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412028 SCV000486120 likely pathogenic Pyknodysostosis 2016-03-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000412028 SCV004215240 likely pathogenic Pyknodysostosis 2023-09-27 criteria provided, single submitter clinical testing

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