ClinVar Miner

Submissions for variant NM_001330360.2(POLA1):c.1687-15C>T

gnomAD frequency: 0.00442  dbSNP: rs11573348
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001523389 SCV001733085 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506640 SCV002805098 likely benign X-linked reticulate pigmentary disorder; X-linked intellectual disability, van Esch type 2021-08-12 criteria provided, single submitter clinical testing

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