ClinVar Miner

Submissions for variant NR_023317.1(RNU7-1):n.28C>T

dbSNP: rs180837208
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001568344 SCV003835484 pathogenic Aicardi-Goutieres syndrome 9 2022-09-02 criteria provided, single submitter clinical testing
GeneDx RCV003223725 SCV003919532 likely pathogenic not provided 2022-10-26 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect with severely reduced processing efficiency (Kolev and Steitz, 2006); This variant is associated with the following publications: (PMID: 33230297, 16547514)
Mayo Clinic Laboratories, Mayo Clinic RCV003223725 SCV005414062 likely pathogenic not provided 2024-05-30 criteria provided, single submitter clinical testing PP4, PM1, PM3, PS3_supporting
OMIM RCV001568344 SCV001792200 pathogenic Aicardi-Goutieres syndrome 9 2021-08-16 no assertion criteria provided literature only
Undiagnosed Diseases Network, NIH RCV001568344 SCV002818556 pathogenic Aicardi-Goutieres syndrome 9 2022-09-06 no assertion criteria provided clinical testing

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