ClinVar Miner

Submissions for variant NM_004463.3(FGD1):c.1241C>T (p.Pro414Leu)

dbSNP: rs1557189455
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659634 SCV000781477 likely pathogenic Aarskog syndrome 2016-11-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268403 SCV001447311 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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