ClinVar Miner

Submissions for variant NM_014314.4(RIGI):c.734A>G (p.Asn245Ser)

gnomAD frequency: 0.00693  dbSNP: rs141808660
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000892615 SCV001036502 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505285 SCV002807175 likely benign Singleton-Merten syndrome 2 2021-08-24 criteria provided, single submitter clinical testing

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