ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6001C>T (p.Arg2001Trp)

gnomAD frequency: 0.00003  dbSNP: rs782160183
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000868198 SCV001009500 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-12-12 criteria provided, single submitter clinical testing
GeneDx RCV001575758 SCV001802816 likely benign not provided 2021-03-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908239 SCV004727071 likely benign FLNA-related condition 2020-10-23 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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