ClinVar Miner

Submissions for variant NM_000751.3(CHRND):c.1480T>C (p.Tyr494His)

gnomAD frequency: 0.00013  dbSNP: rs368695808
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803667 SCV000943549 likely benign Lethal multiple pterygium syndrome 2023-11-03 criteria provided, single submitter clinical testing
3billion RCV000803667 SCV002318805 uncertain significance Lethal multiple pterygium syndrome 2022-03-22 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency:0.0000634). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.795>=0.6). A missense variant is a common mechanism . Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Revvity Omics, Revvity RCV003144625 SCV003832125 uncertain significance not provided 2022-01-24 criteria provided, single submitter clinical testing

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