ClinVar Miner

Submissions for variant NM_000396.4(CTSK):c.244-10_244-8del

gnomAD frequency: 0.00009  dbSNP: rs774922287
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000357194 SCV000348281 uncertain significance Pyknodysostosis 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000942070 SCV001087983 benign not provided 2025-01-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV000357194 SCV001455147 likely benign Pyknodysostosis 2020-06-18 no assertion criteria provided clinical testing

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