ClinVar Miner

Submissions for variant NM_002532.6(NUP88):c.2157A>G (p.Lys719=)

gnomAD frequency: 0.42492  dbSNP: rs1071705
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001788924 SCV002029978 benign Fetal akinesia deformation sequence 4 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710358 SCV005254826 benign not provided criteria provided, single submitter not provided

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