ClinVar Miner

Submissions for variant NM_000188.3(HK1):c.1571-18C>T

gnomAD frequency: 0.00187  dbSNP: rs75829368
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516665 SCV001724977 benign not provided 2025-01-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001516665 SCV003800062 likely benign not provided 2024-09-04 criteria provided, single submitter clinical testing

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