ClinVar Miner

Submissions for variant NM_024516.4(PAGR1):c.274A>G (p.Ser92Gly)

gnomAD frequency: 0.00009  dbSNP: rs375215655
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV001526669 SCV001733594 likely pathogenic lethal neurodevelopmental disorder criteria provided, single submitter clinical testing
OMIM RCV002468258 SCV002758778 uncertain significance not provided 2022-12-06 no assertion criteria provided literature only

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