ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6227-10C>T

gnomAD frequency: 0.00007  dbSNP: rs782748718
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001516281 SCV001724543 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-10-13 criteria provided, single submitter clinical testing
GeneDx RCV001568202 SCV001792030 likely benign not provided 2020-06-15 criteria provided, single submitter clinical testing

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