ClinVar Miner

Submissions for variant NM_015231.3(NUP160):c.16G>T (p.Ala6Ser)

dbSNP: rs2305984
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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 RCV002132054 SCV002406571 benign not provided 2024-01-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002132054 SCV004130106 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing NUP160: BS1
Breakthrough Genomics, Breakthrough Genomics RCV002132054 SCV005324253 benign not provided criteria provided, single submitter not provided

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