ClinVar Miner

Submissions for variant NM_001330360.2(POLA1):c.4383C>T (p.Phe1461=)

gnomAD frequency: 0.00013  dbSNP: rs150514156
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002081721 SCV002424017 likely benign not provided 2023-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494337 SCV002796784 likely benign X-linked reticulate pigmentary disorder; X-linked intellectual disability, van Esch type 2021-10-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003933512 SCV004749319 likely benign POLA1-related disorder 2019-06-06 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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