ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.541G>A (p.Ala181Thr)

gnomAD frequency: 0.00002  dbSNP: rs568483869
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001571897 SCV001796453 likely benign not provided 2021-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476875 SCV002798149 likely benign Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2022-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001571897 SCV003275040 likely benign not provided 2023-05-04 criteria provided, single submitter clinical testing

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