ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.6658A>G (p.Ile2220Val)

gnomAD frequency: 0.48869  dbSNP: rs2228510
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001666962 SCV001885711 benign not provided 2018-07-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001703046 SCV001934126 benign Macrocephaly, dysmorphic facies, and psychomotor retardation 2021-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001666962 SCV002348516 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001666962 SCV005292407 benign not provided criteria provided, single submitter not provided

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