ClinVar Miner

Submissions for variant NM_020207.7(ERCC6L2):c.2637C>T (p.Asp879=)

gnomAD frequency: 0.32463  dbSNP: rs3088294
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518377 SCV001727054 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001518377 SCV005265071 benign not provided criteria provided, single submitter not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005232380 SCV005876206 benign Pancytopenia-developmental delay syndrome 2024-11-27 criteria provided, single submitter clinical testing

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