ClinVar Miner

Submissions for variant NM_016333.4(SRRM2):c.1001C>T (p.Pro334Leu)

gnomAD frequency: 0.00127  dbSNP: rs150235008
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000969968 SCV001117520 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000969968 SCV005293809 benign not provided criteria provided, single submitter not provided

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