ClinVar Miner

Submissions for variant NM_017612.5(ZCCHC8):c.1345+5G>A

gnomAD frequency: 0.01008  dbSNP: rs116783031
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 RCV000968693 SCV001116163 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488056 SCV002802445 likely benign Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 2022-02-15 criteria provided, single submitter clinical testing

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